"The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 694473	NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	USP53 (R57*)	Single nucleotide variant (nonsense +1 more)	Cholestasis	GPathogenic
Select item 694474	NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	USP53 (R99S)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GPathogenic
Select item 694475	NM_001371395.1(USP53):c.395A>G (p.His132Arg)	USP53 (H132R +1 more)	Single nucleotide variant (missense variant)	Cholestasis	GLikely pathogenic
Select item 694476	NM_001371395.1(USP53):c.569+2T>C	USP53	Single nucleotide variant (splice donor variant)	Cholestasis	GPathogenic
Select item 694477	NM_001371395.1(USP53):c.583del (p.Arg195fs)	USP53 (R195fs +1 more)	Deletion (frameshift variant)	Cholestasis	GPathogenic
Select item 694478	NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	USP53 (V279fs)	Microsatellite (frameshift variant)	Cholestasis	GPathogenic
Select item 694479	NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	USP53 (G293V +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GLikely pathogenic
Select item 694273	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	USP53 (R338* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 694480	NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	USP53 (R425* +4 more)	Single nucleotide variant (nonsense)	Cholestasis	GPathogenic
Select item 694481	NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	USP53 (R469* +4 more)	Single nucleotide variant (nonsense)	Cholestasis +1 more	GPathogenic